Canonical Allele Identifier: CA52412072

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 463850
• ClinVar RCV Id: RCV000551492 ; RCV000565839
• dbSNP Id: rs372120755
• gnomAD v2: 2-96919767-C-T
• gnomAD v4: 2-96254029-C-T
• MyVariant Identifiers: chr2:g.96919767C>T (hg19) ; chr2:g.96254029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254029C>T , CM000664.2:g.96254029C>T	GRCh38
NC_000002.11:g.96919767C>T , CM000664.1:g.96919767C>T	GRCh37
NC_000002.10:g.96283494C>T	NCBI36
NG_027695.1:g.16985G>A , LRG_528:g.16985G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.496G>A MANE Select	ENSP00000258439.3:p.Gly166Arg
ENST00000258439.7:c.496G>A	ENSP00000258439.2:p.Gly166Arg
ENST00000432959.1:c.496G>A	ENSP00000416660.1:p.Gly166Arg
ENST00000435268.1:c.244G>A	ENSP00000411810.1:p.Gly82Arg
NM_001193304.2:c.496G>A	NP_001180233.1:p.Gly166Arg
NM_017849.3:c.496G>A , LRG_528t1:c.496G>A	NP_060319.1:p.Gly166Arg
XM_017004450.1:c.-423G>A	XP_016859939.1:n.-423G>A
XM_017004452.1:c.244G>A	XP_016859941.1:p.Gly82Arg
NM_001193304.3:c.496G>A	NP_001180233.1:p.Gly166Arg
NM_017849.4:c.496G>A MANE Select	NP_060319.1:p.Gly166Arg